Analysis of telomeric DNA: Current approaches and methods

Russian Journal of Developmental Biology

Volumn 40, Issue 3, 2009, Pages 125-144

  Dmitriev, P V ^a   Vassetzky, Y S ^a,b  

^a UMR 8126   (France)

^b KOL TSOV INSTITUTE OF DEVELOPMENTAL BIOLOGY   (Russian Federation)

Author keywords

Cloning and sequencing of telomeric DNA; Size changes and visualization of telomeric DNA; Telomeric and subtelomeric DNA; Three dimensional organization of telomeric DNA

Indexed keywords

EUKARYOTA;

EID: 67650392085     PISSN: 10623604     EISSN: 16083326     Source Type: Journal    
DOI: 10.1134/S1062360409030011     Document Type: Review

References (209)

1. A Complete Set of Human Telomeric Probes and Their Clinical Application. National Institutes of Health and Institute of Molecular Medicine Collaboration, Nat. Genet., 1996, vol. 14, pp. 86-89.
2. A. Ambrosini S. Paul S. Hu 2007 Human Subtelomeric Duplicon Structure and Organization Genome Biol. 8 R151
3. V.E. Anisimova D.V. Rebrikov P.A. Zhulidov 2006 Renaturation, Activation, and Practical Use of Recombinant Duplex-Specific Nuclease from Kamchatka Crab Biochemistry (Mosc) 71 513 519 (Pubitemid 43814012)
4. J.A. Armour C. Sismani P.C. Patsalis 2000 Measurement of Locus Copy Number by Hybridisation with Amplifiable Probes Nucleic Acids Res. 28 605 609 (Pubitemid 30058002)
5. S.M. Bailey M.A. Brenneman E.H. Goodwin 2004 Frequent Recombination in Telomeric DNA May Extend the Proliferative Life of Telomerase-Negative Cells Nucleic Acids Res. 32 3743 3751 (Pubitemid 39157721)
6. S.M. Bailey M.N. Cornforth A. Kurimasa 2001 Strand-Specific Postreplicative Processing of Mammalian Telomeres Science 293 2462 2465 (Pubitemid 32917329)
7. S.M. Bailey E.H. Goodwin M.N. Cornforth 2004 Strand-Specific Fluorescence in Situ Hybridization: The Co-Fish Family Cytogenet. Genome Res. 107 14 17 (Pubitemid 39140339)
8. D.M. Baird 2005 New Developments in Telomere Length Analysis Exp. Gerontol. 40 363 368 (Pubitemid 40775728)
9. D.M. Baird J. Rowson D. Wynford-Thomas 2003 Extensive Allelic Variation and Ultrashort Telomeres in Senescent Human Cells Nat. Genet. 33 203 207 (Pubitemid 36177075)
10. B.C. Ballif S.G. Sulpizio R.M. Lloyd 2007 The Clinical Utility of Enhanced Subtelomeric Coverage in Array CGH Am. J. Med. Genet. A 143 1850 1857 (Pubitemid 47206059)
11. A. Baroin A. Prat F. Caron 1987 Telomeric Site Position Heterogeneity in Macronuclear DNA of Paramecium Primaurelia Nucleic Acids Res. 15 1717 1728
12. P. Bates J.L. Mergny D. Yang 2007 Quartets in G-Major. The First International Meeting on Quadruplex DNA EMBO Rep. 8 1003 1010 (Pubitemid 350042333)
13. S. Bekaert H. Derradji S. Baatout 2004 Telomere Biology in Mammalian Germ Cells and During Development Dev. Biol. 274 15 30 (Pubitemid 39206279)
14. E.H. Blackburn P.B. Challoner 1984 Identification of a Telomeric DNA Sequence in Trypanosoma brucei Cell 36 447 457 (Pubitemid 14126233)
15. E.H. Blackburn J.G. Gall 1978 A Tandemly Repeated Sequence at the Termini of the Extrachromosomal Ribosomal RNA Genes in Tetrahymena J. Mol. Biol. 120 33 53 (Pubitemid 8312910)
16. M.A. Blasco 2005 Telomeres and Human Disease: Ageing, Cancer and Beyond Nat. Rev. Genet. 6 611 622 (Pubitemid 41044298)
17. F.M. Bollmann 2007 Targeting Alt: The Role of Alternative Lengthening of Telomeres in Pathogenesis and Prevention of Cancer Cancer Treat Rev. 33 704 709 (Pubitemid 350082669)
18. C. Booth E. Griffith G. Brady 2001 Quantitative Amplification of Single-Stranded DNA (QAOS) Demonstrates That Cdc13-1 Mutants Generate sDNA in a Telomere to Centromere Direction Nucleic Acids Res. 29 4414 4422 (Pubitemid 33064782)
19. B. Britt-Compton D.M. Baird 2006 Intra-Allelic Mutation at Human Telomeres Biochem. Soc. Trans. 34 581 582 (Pubitemid 44230769)
20. B. Britt-Compton J. Rowson M. Locke 2006 Structural Stability and Chromosome-Specific Telomere Length Is Governed by Cis-Acting Determinants in Humans Hum. Mol. Genet. 15 725 733 (Pubitemid 43264697)
21. J. Brown K. Saracoglu S. Uhrig 2001 Subtelomeric Chromosome Rearrangements Are Detected Using an Innovative 12-Color Fish Assay (M-TEL) Nat. Med. 7 497 501 (Pubitemid 32298556)
22. W.R. Brown 1989 Molecular Cloning of Human Telomeres in Yeast Nature 338 774 776 (Pubitemid 19114384)
23. W.R. Brown M.J. Dobson P. MacKinnon 1990 Telomere Cloning and Mammalian Chromosome Analysis J. Cell. Sci. 95 Pt4 521 526 (Pubitemid 20141344)
24. V.J. Buckle L. Kearney 1993 Untwirling Dirvish Nat. Genet. 5 4 5 (Pubitemid 23261507)
25. S. Burge G.N. Parkinson P. Hazel 2006 Quadruplex DNA: Sequence, Topology and Structure Nucleic Acids Res. 34 5402 5415 (Pubitemid 44742430)
26. R.J. Callicott J.E. Womack 2006 Real-Time PCR Assay for Measurement of Mouse Telomeres Comp. Med. 56 17 22
27. F. Caron 1992 A High Degree of Macronuclear Chromosome Polymorphism Is Generated by Variable DNA Rearrangements in Paramecium primaurelia during Macronuclear Differentiation J. Mol. Biol. 225 661 678
28. R.M. Cawthon 2002 Telomere Measurement by Quantitative Pcr Nucleic Acids Res. 30 e47
29. A.J. Cesare J.D. Griffith 2004 Telomeric DNA in ALT Cells Is Characterized by Free Telomeric Circles and Heterogeneous T-Loops Mol. Cell Biol. 24 9948 9957 (Pubitemid 39458820)
30. W. Chai Q. Du J.W. Shay 2006 Human Telomeres Have Different Overhang Sizes at Leading Versus Lagging Strands Mol. Cell 21 427 435 (Pubitemid 43163537)
31. C.S. Chan B.K. Tye 1983 Organization of DNA Sequences and Replication Origins at Yeast Telomeres Cell 33 563 573
32. J.M. Cherry C. Ball S. Weng 1997 Genetic and Physical Maps of Saccharomyces cerevisiae Nature 387 67 73 (Pubitemid 27334668)
33. G. Cimino-Reale E. Pascale E. Battiloro 2001 The Length of Telomeric G-Rich Strand 3-Overhang Measured by Oligonucleotide Ligation Assay Nucleic Acids Res. 29 E35
34. M.N. Cornforth R.L. Eberle 2001 Termini of Human Chromosomes Display Elevated Rates of Mitotic Recombination Mutagenesis 16 85 89 (Pubitemid 32049217)
35. S.H. Cross R.C. Allshire S.J. McKay 1989 Cloning of Human Telomeres by Complementation in Yeast Nature 338 771 774 (Pubitemid 19114383)
36. G.M. Davison 2007 Telomeres and Telomerase in Leukaemia and Lymphoma Transfus Apher Sci. 37 43 47 (Pubitemid 47576784)
37. D. de Bruin S.M. Kantrow R.A. Liberatore 2000 Telomere Folding Is Required for the Stable Maintenance of Telomere Position Effects in Yeast Mol. Cell Biol. 20 7991 8000 (Pubitemid 30777716)
38. D. de Bruin Z. Zaman R.A. Liberatore 2001 Telomere Looping Permits Gene Activation by a Downstream Uas in Yeast Nature 409 109 113 (Pubitemid 32098635)
39. A. De Cian L. Guittat M. Kaiser 2007 Fluorescence-Based Melting Assays for Studying Quadruplex Ligands Methods 42 183 195 (Pubitemid 46667236)
40. T. de Lange 2004 T-Loops and the Origin of Telomeres Nat. Rev. Mol. Cell Biol. 5 323 329 (Pubitemid 38480613)
41. B.B. De Vries R. Winter A. Schinzel 2003 Telomeres: A Diagnosis at the End of the Chromosomes J. Med. Genet. 40 385 398 (Pubitemid 36760655)
42. Z. Deng J. Dheekollu D. Broccoli 2007 The Origin Recognition Complex Localizes to Telomere Repeats and Prevents Telomere-Circle Formation Curr Biol. 17 1989 1995 (Pubitemid 350088493)
43. P.A. Dijkwel J.L. Hamlin 1997 Mapping Replication Origins by Neutral/Neutral Two-Dimensional Gel Electrophoresis Methods 13 235 245
44. I. Dionne R.J. Wellinger 1996 Cell Cycle-Regulated Generation of Single-Stranded G-Rich DNA in the Absence of Telomerase Proc. Natl. Acad. Sci. USA 93 13902 13907 (Pubitemid 26424218)
45. M. Dixit E. Ansseau A. Tassin 2007 DUX4, a Candidate Gene of Facioscapulohumeral Muscular Dystrophy, Encodes a Transcriptional Activator of PITX1 Proc. Natl. Acad. Sci. USA 104 18157 18162 (Pubitemid 350210837)
46. P.V. Dmitriev A.V. Petrov O.A. Dontsova 2003 Yeast Telosome Complex: Components and Their Functions Biochemistry (Mosc) 68 718 734
47. B. Dutrillaux 1973 New System of Chromosome Banding: The T Bands (Author's Transl) Chromosoma 41 395 402
48. A.M. Eldridge D.S. Wuttke 2008 Probing the Mechanism of Recognition of sDNA by the Cdc13-DBD Nucleic Acids Res. 36 1624 1633
49. H.S. Emery A.M. Weiner 1981 An Irregular Satellite Sequence Is Found at the Termini of the Linear Extrachromosomal rDNA in Dictyostelium Discoideum Cell 26 411 419 (Pubitemid 12247721)
50. E.S. Epel E.H. Blackburn J. Lin 2004 Accelerated Telomere Shortening in Response to Life Stress Proc. Natl. Acad. Sci. USA 101 17312 17315 (Pubitemid 39627816)
51. J. Fajkus E. Sykorova A.R. Leitch 2005 Telomeres in Evolution and Evolution of Telomeres Chromosome Res. 13 469 479 (Pubitemid 41205630)
52. P. Finelli S. Fabris S. Zagano 1999 Detection of T(4;14) (P16.3;Q32) Chromosomal Translocation in Multiple Myeloma by Double-Color Fluorescent in Situ Hybridization Blood 94 724 732 (Pubitemid 29323886)
53. T.M. Fletcher D. Sun M. Salazar 1998 Effect of DNA Secondary Structure on Human Telomerase Activity Biochemistry 37 5536 5541 (Pubitemid 28241936)
54. J. Flint A.O. Wilkie V.J. Buckle 1995 The Detection of Subtelomeric Chromosomal Rearrangements in Idiopathic Mental Retardation Nat. Genet. 9 132 140
55. M.A. Freulet-Marriere G. Potocki-Veronese J.R. Deverre 2004 Rapid Method for Mean Telomere Length Measurement Directly from Cell Lysates Biochem. Biophys. Res. Commun. 314 950 956 (Pubitemid 38142376)
56. M. Fujiwara H. Kamma W. Wu 2006 Alternative Lengthening of Telomeres in the Human Adrenocortical Carcinoma Cell Line H295R Int. J. Oncol. 29 445 451
57. V. Galy J.C. Olivo-Marin H. Scherthan 2000 Nuclear Pore Complexes in the Organization of Silent Telomeric Chromatin Nature 403 108 112 (Pubitemid 30038531)
58. S. Garagna M. Zuccotti E. Capanna 2002 High-Resolution Organization of Mouse Telomeric and Pericentromeric DNA Cytogenet. Genome Res. 96 125 129 (Pubitemid 37456590)
59. M. Garcia-Cao S. Gonzalo D. Dean 2002 A Role for the Rb Family of Proteins in Controlling Telomere Length Nat. Genet. 32 415 419 (Pubitemid 35266118)
60. J.M. Gardiner E.H. Coe S. Chao 1996 Cloning Maize Telomeres by Complementation in Saccharomyces cerevisiae Genome 39 736 748 (Pubitemid 26369468)
61. E. Gilson V. Geli 2007 How Telomeres Are Replicated Nat. Rev. Mol. Cell Biol. 8 825 838 (Pubitemid 47462137)
62. S. Gonzalo I. Jaco M.F. Fraga 2006 DNA Methyltransferases Control Telomere Length and Telomere Recombination in Mammalian Cells Nat. Cell Biol. 8 416 424
63. E. Goodwin J. Meyne 1993 Strand-Specific Fish Reveals Orientation of Chromosome 18 Alphoid DNA Cytogenet Cell Genet. 63 126 127 (Pubitemid 23122277)
64. R. Gowthaman S. Krishnamoorthy R.D. Nandakumar 2007 Teck Database: A Comprehensive Collection of Telomeric and Centromeric Sequences with Their Associated Proteins Bioinformation 2 73 75
65. C.W. Greider E.H. Blackburn 1985 Identification of a Specific Telomere Terminal Transferase Activity in Tetrahymena Extracts Cell 43 405 413 (Pubitemid 16213265)
66. J.D. Griffith L. Comeau S. Rosenfield 1999 Mammalian Telomeres End in a Large Duplex Loop Cell 97 503 514 (Pubitemid 29231173)
67. A. Grudic A. Jul-Larsen S.J. Haring 2007 Replication Protein a Prevents Accumulation of Single-Stranded Telomeric DNA in Cells That Use Alternative Lengthening of Telomeres Nucleic Acids Res. 35 7267 7278
68. X.Y. Guan H. Zhang M. Bittner 1996 Chromosome Arm Painting Probes Nat. Genet. 12 10 11
69. T. Haaf D.C. Ward 1994 Structural Analysis of Alpha-Satellite DNA and Centromere Proteins Using Extended Chromatin and Chromosomes Hum. Mol. Genet. 3 697 709
70. J.G. Hacia E.A. Novotny R.A. Mayer 1999 Design of Modified Oligodeoxyribonucleotide Probes to Detect Telomere Repeat Sequences in Fish Assays Nucleic Acids Res. 27 4034 4039 (Pubitemid 29479030)
71. T. Hails O. Huttner A. Day 1995 Isolation of a Chlamydomonas reinhardtii Telomere by Functional Complementation in Yeast Curr Genet. 28 437 440
72. H. Han L.H. Hurley M. Salazar 1999 A DNA Polymerase Stop Assay for G-Quadruplex-Interactive Compounds Nucleic Acids Res. 27 537 542 (Pubitemid 29210020)
73. C.B. Harley A.B. Futcher C.W. Greider 1990 Telomeres Shorten During Ageing of Human Fibroblasts Nature 345 458 460
74. L. Harper I. Golubovskaya W.Z. Cande 2004 A Bouquet of Chromosomes J. Cell. Sci. 117 4025 4032 (Pubitemid 39328291)
75. L. Harrington 2004 Those Dam-Aged Telomeres! Curr. Opin. Genet. Dev. 14 22 28 (Pubitemid 38173006)
76. M. Hashimoto S. Kyo K. Masutomi 2005 Analysis of Telomeric Single-Strand Overhang Length in Human Endometrial Cancers FEBS Lett. 579 2959 2964 (Pubitemid 40725274)
77. L. Hayflick P.S. Moorhead 1961 The Serial Cultivation of Human Diploid Cell Strains Exp. Cell Res. 25 585 621
78. Y. He R.D. Neumann I.G. Panyutin 2004 Intramolecular Quadruplex Conformation of Human Telomeric DNA Assessed with 125I-Radioprobing Nucleic Acids Res. 32 5359 5367 (Pubitemid 39545653)
79. M. Heacock E. Spangler K. Riha 2004 Molecular Analysis of Telomere Fusions in Arabidopsis: Multiple Pathways for Chromosome End-Joining EMBO J. 23 2304 2313 (Pubitemid 38833239)
80. F. Hediger F.R. Neumann G. Van Houwe 2002 Live Imaging of Telomeres: yKu and Sir Proteins Define Redundant Telomere-Anchoring Pathways in Yeast Curr. Biol. 12 2076 2089 (Pubitemid 36021885)
81. M.T. Hemann M.A. Strong L.Y. Hao 2001 The Shortest Telomere, Not Average Telomere Length, Is Critical for Cell Viability and Chromosome Stability Cell 107 67 77 (Pubitemid 32972038)
82. E. Henderson C.C. Hardin S.K. Walk 1987 Telomeric DNA Oligonucleotides Form Novel Intramolecular Structures Containing Guanine-Guanine Base Pairs Cell 51 899 908
83. H.H. Heng L.C. Tsui 1998 High Resolution Free Chromatin/DNA Fiber Fluorescent in situ Hybridization J. Chromatogr. A 806 219 229 (Pubitemid 28238218)
84. J.D. Henson J.A. Hannay S.W. McCarthy 2005 A Robust Assay for Alternative Lengthening of Telomeres in Tumors Shows the Significance of Alternative Lengthening of Telomeres in Sarcomas and Astrocytomas Clin. Cancer Res. 11 217 225 (Pubitemid 40075798)
85. D. Hockemeyer A.J. Sfeir J.W. Shay 2005 POT1 Protects Telomeres from a Transient DNA Damage Response and Determines how Human Chromosomes End EMBO J. 24 2667 2678 (Pubitemid 41076322)
86. M.P. Horvath V.L. Schweiker J.M. Bevilacqua 1998 Crystal Structure of the Oxytricha Nova Telomere End Binding Protein Complexed with Single Strand DNA Cell 95 963 974 (Pubitemid 29019048)
87. M. Hultdin E. Gronlund K. Norrback 1998 Telomere Analysis by Fluorescence in Situ Hybridization and Flow Cytometry Nucleic Acids Res. 26 3651 3656 (Pubitemid 28367969)
88. A.S. Ivessa J.Q. Zhou V.P. Schulz 2002 Saccharomyces Rrm3p, a 5to 3 DNA Helicase That Promotes Replication Fork Progression through Telomeric and Subtelomeric DNA Genes Dev. 16 1383 1396 (Pubitemid 34615091)
89. S.A. Jackson M.L. Wang H.M. Goodman 1998 Application of Fiber-Fish in Physical Mapping of Arabidopsis thaliana Genome 41 566 572 (Pubitemid 28532094)
90. J.E. Johnson J.S. Smith M.L. Kozak 2008 In Vivo Veritas: Using Yeast to Probe the Biological Functions of G-Quadruplexes Biochimie 90 1250 1263
91. M. Johnston L. Hillier L. Riles 1997 The Nucleotide Sequence of Saccharomyces cerevisiae Chromosome Xii Nature 387 87 90 (Pubitemid 27334673)
92. C. Kang X. Zhang R. Ratliff 1992 Crystal Structure of Four-Stranded Oxytricha Telomeric DNA Nature 356 126 131
93. A. Kass-Eisler C.W. Greider 2000 Recombination in Telomere-Length Maintenance Trends Biochem. Sci. 25 200 204 (Pubitemid 30195838)
94. D. Kipling H.E. Wilson E.J. Thomson 1995 Yac Cloning Mus musculus Telomeric DNA: Physical, Genetic, in Situ and STS Markers for the Distal Telomere of Chromosome 10 Hum. mol. Genet. 4 1007 1014
95. M. Kirwan I. Dokal 2008 Dyskeratosis Congenita: A Genetic Disorder of Many Faces Clin. Genet. 73 103 112
96. L.A. Klobutcher M.T. Swanton P. Donini 1981 All Gene-Sized DNA Molecules in Four Species of Hypotrichs Have the Same Terminal Sequence and an Unusual 3 Terminus Proc. Natl. Acad. Sci. USA 78 3015 3019
97. S.J. Knight S.W. Horsley R. Regan 1997 Development and Clinical Application of an Innovative Fluorescence in Situ Hybridization Technique Which Detects Submicroscopic Rearrangements Involving Telomeres Eur. J. Hum. Genet. 5 1 8 (Pubitemid 27197238)
98. S.J. Knight C.M. Lese K.S. Precht 2000 An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture Am. J. Hum. Genet. 67 320 332 (Pubitemid 30618039)
99. J. Koch 2006 Detection and Sizing of Telomeric and Other Simple Repeats by Dideoxy-Prins Methods Mol. Biol. 334 81 88
100. J.E. Koch S. Kolvraa K.B. Petersen 1989 Oligonucleotide-Priming Methods for the Chromosome-Specific Labelling of Alpha Satellite DNA in Situ Chromosoma 98 259 265 (Pubitemid 19270890)
101. P. Konig R. Giraldo L. Chapman 1996 The Crystal Structure of the DNA-Binding Domain of Yeast RAP1 in Complex with Telomeric DNA Cell 85 125 136 (Pubitemid 26116813)
102. K. Krejci J. Koch 1998 Improved Detection and Comparative Sizing of Human Chromosomal Telomeres in Situ Chromosoma 107 198 203 (Pubitemid 28353733)
103. K. Krejci J. Koch 1999 An in Situ Study of Variant Telomeric Repeats in Human Chromosomes Genomics 58 202 206 (Pubitemid 29275765)
104. K. Krejci J. Stentoft J. Koch 1999 Molecular Cytogenetics Investigation of the Telomeres in a Case of Philadelphia Positive B-ALL with a Single Telomere Expansion Neoplasia 1 492 497
105. A.N. Kuimov 2004 Polypeptide Components of Telomere Nucleoprotein Complex Biochemistry (Mosc) 69 117 129
106. P.M. Lansdorp N.P. Verwoerd F.M. van de Rijke 1996 Heterogeneity in Telomere Length of Human Chromosomes Hum. Mol. Genet. 5 685 691 (Pubitemid 26141285)
107. T. Laroche S.G. Martin M. Tsai-Pflugfelder 2000 The Dynamics of Yeast Telomeres and Silencing Proteins through the Cell Cycle J. Struct. Biol. 129 159 174 (Pubitemid 30481357)
108. M. Larrivee C. LeBel R.J. Wellinger 2004 The Generation of Proper Constitutive G-Tails on Yeast Telomeres Is Dependent on the MRX Complex Genes Dev. 18 1391 1396 (Pubitemid 38780626)
109. M. Lei E.R. Podell T.R. Cech 2004 Structure of Human POT1 Bound to Telomeric Single-Stranded DNA Provides a Model for Chromosome End-Protection Nat. Struct. Mol. Biol. 11 1223 1229
110. R.J. Lemmers P. de Kievit L. Sandkuijl 2002 Facioscapulohumeral Muscular Dystrophy Is Uniquely Associated with One of the Two Variants of the 4q Subtelomere Nat. Genet. 32 235 236
111. R.J. Lemmers M. Wohlgemuth K.J. van der Gaag 2007 Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy Am. J. Hum. Genet. 81 884 894 (Pubitemid 47580243)
112. K.W. Lin J. Yan 2005 The Telomere Length Dynamic and Methods of Its Assessment J. Cell. Mol. Med. 9 977 989 (Pubitemid 43116562)
113. E.J. Louis R.H. Borts 1995 A Complete Set of Marked Telomeres in Saccharomyces cerevisiae for Physical Mapping and Cloning Genetics 139 125 136
114. K. Maeshima S. Janssen U.K. Laemmli 2001 Specific Targeting of Insect and Vertebrate Telomeres with Pyrrole and Imidazole Polyamides EMBO J. 20 3218 3228 (Pubitemid 32612009)
115. V.L. Makarov Y. Hirose J.P. Langmore 1997 Long G Tails at Both Ends of Human Chromosomes Suggest a C Strand Degradation Mechanism for Telomere Shortening Cell 88 657 666 (Pubitemid 27152408)
116. S. Makovets I. Herskowitz E.H. Blackburn 2004 Anatomy and Dynamics of DNA Replication Fork Movement in Yeast Telomeric Regions Mol. Cell Biol. 24 4019 4031 (Pubitemid 38496178)
117. P.S. Masny U. Bengtsson S.A. Chung 2004 Localization of 4q35.2 to the Nuclear Periphery: Is FSHD a Nuclear Envelope Disease? Hum. Mol. Genet. 13 1857 1871 (Pubitemid 39214334)
118. M. Masuno K. Imaizumi M. Nakamura 1995 Miller-Dieker Syndrome Due to Maternal Cryptic Translocation T(10;17) (Q26.3;P13.3) Am J. Med. Genet. 59 441 443
119. A.M. Maxam W. Gilbert 1980 Sequencing End-Labeled DNA with Base-Specific Chemical Cleavages Methods Enzymol. 65 499 560
120. B. McClintock 1941 The Stability of Broken Ends of Chromosomes in Zea mays Genetics 26 234 282
121. H.C. Mefford B.J. Trask 2002 The Complex Structure and Dynamic Evolution of Human Subtelomeres Nat. Rev. Genet. 3 91 102 (Pubitemid 34506593)
122. M. Meselson F.W. Stahl 1958 The Replication of DNA in Escherichia Coli Proc. Natl. Acad. Sci. USA 44 671 682
123. J. Meyne R.J. Baker H.H. Hobart 1990 Distribution of Non-Telomeric Sites of the (TTAGGG)n Telomeric Sequence in Vertebrate Chromosomes Chromosoma 99 3 10 (Pubitemid 20103944)
124. K.M. Miller O. Rog J.P. Cooper 2006 Semi-Conservative DNA Replication through Telomeres Requires Taz1 Nature 440 824 828
125. R.M. Mitton-Fry E.M. Anderson D.L. Theobald 2004 Structural Basis for Telomeric Single-Stranded DNA Recognition by Yeast Cdc13 J. Mol. Biol. 338 241 255 (Pubitemid 38447083)
126. C. Molenaar K. Wiesmeijer N.P. Verwoerd 2003 Visualizing Telomere Dynamics in Living Mammalian Cells Using Pna Probes EMBO J. 22 6631 6641 (Pubitemid 38009609)
127. R.K. Moyzis J.M. Buckingham L.S. Cram 1988 A Highly Conserved Repetitive DNA Sequence, (TTAGGG)n, Present at the Telomeres of Human Chromosomes Proc. Natl. Acad. Sci. USA 85 6622 6626 (Pubitemid 18223496)
128. J.L. Munoz-Jordan G.A. Cross T. de Lange 2001 T-Loops at Trypanosome Telomeres EMBO J. 20 579 588 (Pubitemid 32126993)
129. A. Muntoni R.R. Reddel 2005 The First Molecular Details of ALT in Human Tumor Cells Hum. Mol. Genet. 14. Spec2 R191 196
130. R.G. Nagele T. Freeman L. McMorrow 1999 Chromosomes Exhibit Preferential Positioning in Nuclei of Quiescent Human Cells J. Cell. Sci. 112 Pt.4 525 535 (Pubitemid 29106199)
131. R.G. Nagele A.Q. Velasco W.J. Anderson 2001 Telomere Associations in Interphase Nuclei: Possible Role in Maintenance of Interphase Chromosome Topology J. Cell. Sci. 114 377 388 (Pubitemid 32149579)
132. S. Nakagawa N.J. Gemmell T. Burke 2004 Measuring Vertebrate Telomeres: Applications and Limitations Mol. Ecol. 13 2523 2533 (Pubitemid 39151612)
133. Y. Nakamura M. Hirose H. Matsuo 1999 Simple, Rapid, Quantitative, and Sensitive Detection of Telomere Repeats in Cell Lysate by a Hybridization Protection Assay Clin. Chem. 45 1718 1724 (Pubitemid 29477327)
134. P.E. Nielsen M. Egholm R.H. Berg 1991 Sequence-Selective Recognition of DNA by Strand Displacement with a Thymine-Substituted Polyamide Science 254 1497 1500 (Pubitemid 21917487)
135. T. Nishikawa H. Okamura A. Nagadoi 2001 Solution Structure of a Telomeric DNA Complex of Human TRF1 Structure 9 1237 1251 (Pubitemid 34025057)
136. K. Oexle 1998 Telomere Length Distribution and Southern Blot Analysis J. Theor. Biol. 190 369 377 (Pubitemid 28159754)
137. K. Oexle A. Kohlschutter 2001 Cause of Progression in Duchenne Muscular Dystrophy: Impaired Differentiation More Probable Than Replicative Aging Neuropediatrics 32 123 129 (Pubitemid 32747623)
138. R. Ohki F. Ishikawa 2004 Telomere-Bound TRF1 and TRF2 Stall the Replication Fork at Telomeric Repeats Nucleic Acids Res. 32 1627 1637 (Pubitemid 38832708)
139. A.M. Olovnikov 1971 [Principle of Marginotomy in Template Synthesis of Polynucleotides] Dokl. Akad. Nauk SSSR 201 1496 1499
140. A.M. Olovnikov 1973 A Theory of Marginotomy. The Incomplete Copying of Template Margin in Enzymic Synthesis of Polynucleotides and Biological Significance of the Phenomenon J. Theor. Biol. 41 181 190
141. K. Paeschke T. Simonsson J. Postberg 2005 Telomere End-Binding Proteins Control the Formation of G-Quadruplex DNA Structures in Vivo Nat. Struct. Mol. Biol. 12 847 854 (Pubitemid 41486707)
142. I.G. Panyutin O.I. Kovalsky E.I. Budowsky 1990 G-DNA: A Twice-Folded DNA Structure Adopted by Single-Stranded Oligo(Dg) and Its Implications for Telomeres Proc. Natl. Acad. Sci. USA 87 867 870
143. G.N. Parkinson M.P. Lee S. Neidle 2002 Crystal Structure of Parallel Quadruplexes from Human Telomeric DNA Nature 417 876 880 (Pubitemid 34670337)
144. I. Parra B. Windle 1993 High Resolution Visual Mapping of Stretched DNA by Fluorescent Hybridization Nat. Genet. 5 17 21 (Pubitemid 23261512)
145. P.K. Patel R.V. Hosur 1999 Nmr Observation of T-Tetrads in a Parallel Stranded DNA Quadruplex Formed by Saccharomyces Cerevisiae Telomere Repeats Nucleic Acids Res. 27 2457 2464
146. A.T. Phan J.L. Mergny 2002 Human Telomeric DNA: G-Quadruplex, i-Motif and Watson-Crick Double Helix Nucleic Acids Res. 30 4618 4625 (Pubitemid 35331742)
147. M. Ponzi T. Pace E. Dore 1985 Identification of a Telomeric DNA Sequence in Plasmodium Berghei EMBO J. 4 2991 2995
148. C.M. Price T.R. Cech 1987 Telomeric DNA-Protein Interactions of Oxytricha Macronuclear DNA Genes Dev. 1 783 793
149. A.S. Quina L. Parreira 2005 Telomere-Surrounding Regions Are Transcription-Permissive 3D Nuclear Compartments in Human Cells Exp. Cell Res. 307 52 64 (Pubitemid 40732733)
150. R. Rahman N.R. Forsyth W. Cui 2008 Telomeric 3 Overhang Length Is Associated with the Size of Telomeres Exp. Gerontol. 43 258 265
151. E.M. Rezler D.J. Bearss L.H. Hurley 2002 Telomeres and Telomerases as Drug Targets Curr. Opin. Pharmacol. 2 415 423 (Pubitemid 34830972)
152. E.J. Richards F.M. Ausubel 1988 Isolation of a Higher Eukaryotic Telomere from Arabidopsis thaliana Cell 53 127 136
153. H. Riethman 1997 Closing in on Telomeric Closure Genome Res. 7 853 855 (Pubitemid 27445370)
154. H. Riethman A. Ambrosini C. Castaneda 2004 Mapping and Initial Analysis of Human Subtelomeric Sequence Assemblies Genome Res. 14 18 28 (Pubitemid 38088521)
155. H. Riethman A. Ambrosini S. Paul 2005 Human Subtelomere Structure and Variation Chromosome Res. 13 505 515 (Pubitemid 41205633)
156. H.C. Riethman R.K. Moyzis J. Meyne 1989 Cloning Human Telomeric DNA Fragments into Saccharomyces cerevisiae Using a Yeast-Artificial-Chromosome Vector Proc. Natl. Acad. Sci. USA 86 6240 6244 (Pubitemid 19210629)
157. H.C. Riethman Z. Xiang S. Paul 2001 Integration of Telomere Sequences with the Draft Human Genome Sequence Nature 409 948 951 (Pubitemid 32165353)
158. K. Riha T.D. McKnight J. Fajkus 2000 Analysis of the G-Overhang Structures on Plant Telomeres: Evidence for Two Distinct Telomere Architectures Plant J. 23 633 641 (Pubitemid 30704565)
159. J.F. Riou L. Guittat P. Mailliet 2002 Cell Senescence and Telomere Shortening Induced by a New Series of Specific G-Quadruplex DNA Ligands Proc. Natl. Acad. Sci. USA 99 2672 2677 (Pubitemid 34240519)
160. C. Rosenberg R.J. Florijn F.M. Van de Rijke 1995 High Resolution DNA Fiber-Fish on Yeast Artificial Chromosomes: Direct Visualization of DNA Replication Nat. Genet. 10 477 479
161. M. Rosenberg L. Hui J. Ma 1997 Characterization of Short Tandem Repeats from Thirty-One Human Telomeres Genome Res. 7 917 923 (Pubitemid 27445378)
162. N. Rufer W. Dragowska G. Thornbury 1998 Telomere Length Dynamics in Human Lymphocyte Subpopulations Measured by Flow Cytometry Nat. Biotechnol. 16 743 747 (Pubitemid 28363755)
163. S. Saccone A. De Sario G. Della Valle 1992 The Highest Gene Concentrations in the Human Genome Are in Telomeric Bands of Metaphase Chromosomes Proc. Natl. Acad. Sci. USA 89 4913 4917
164. C. Sayegh S. Jhunjhunwala R. Riblet 2005 Visualization of Looping Involving the Immunoglobulin Heavy-Chain Locus in Developing B Cells Genes Dev. 19 322 327 (Pubitemid 40189295)
165. S. Schaetzlein A. Lucas-Hahn E. Lemme 2004 Telomere Length Is Reset During Early Mammalian Embryogenesis Proc. Natl. Acad. Sci. USA 101 8034 8038 (Pubitemid 38698049)
166. H. Scherthan M. Jerratsch B. Li 2000 Mammalian Meiotic Telomeres: Protein Composition and Redistribution in Relation to Nuclear Pores Mol. Biol. Cell 11 4189 4203
167. S. Schoeftner M.A. Blasco 2008 Developmentally Regulated Transcription of Mammalian Telomeres by DNA-Dependent RNA Polymerase Ii Nat. Cell Biol. 10 228 236 (Pubitemid 351194053)
168. J.P. Schouten C.J. McElgunn R. Waaijer 2002 Relative Quantification of 40 Nucleic Acid Sequences by Multiplex Ligation-Dependent Probe Amplification Nucleic Acids Res. 30 e57
169. E. Schrock S. du Manoir T. Veldman 1996 Multicolor Spectral Karyotyping of Human Chromosomes Science 273 494 497 (Pubitemid 26286449)
170. J.M. Sedivy D.E. Shippen E.V. Shakirov 2003 Surprise Ending Nat. Genet. 33 114 116 (Pubitemid 36177058)
171. N. Serakinci J. Koch 1999 Detection and Sizing of Telomeric Repeat DNA in Situ Nat. Biotechnol. 17 200 201 (Pubitemid 29072548)
172. A.L. Serrano V. Andres 2004 Telomeres and Cardiovascular Disease: Does Size Matter? Circ. Res. 94 575 584 (Pubitemid 38387739)
173. J. Shampay J.W. Szostak E.H. Blackburn 1984 DNA Sequences of Telomeres Maintained in Yeast Nature 310 154 157 (Pubitemid 14086009)
174. P. Slijepcevic 2001 Telomere Length Measurement by Q-FISH Methods Cell Sci. 23 17 22 (Pubitemid 34116331)
175. S.A. Stewart I. Ben-Porath V.J. Carey 2003 Erosion of the Telomeric Single-Strand Overhang at Replicative Senescence Nat. Genet. 33 492 496 (Pubitemid 36390011)
176. W.I. Sundquist A. Klug 1989 Telomeric DNA Dimerizes by Formation of Guanine Tetrads between Hairpin Loops Nature 342 825 829 (Pubitemid 20023821)
177. J.W. Szostak E.H. Blackburn 1982 Cloning Yeast Telomeres on Linear Plasmid Vectors Cell 29 245 255
178. A. Taddei S.M. Gasser 2004 Multiple Pathways for Telomere Tethering: Functional Implications of Subnuclear Position for Heterochromatin Formation Biochim. Biophys. Acta 1677 120 128 (Pubitemid 38327096)
179. H. Tahara M. Kusunoki Y. Yamanaka 2005 G-Tail Telomere HPA: Simple Measurement of Human Single-Stranded Telomeric Overhangs Nat. Methods 2 829 831 (Pubitemid 41741532)
180. R. Tam K.P. Smith J.B. Lawrence 2004 The 4q Subtelomere Harboring the FSHD Locus Is Specifically Anchored with Peripheral Heterochromatin Unlike Most Human Telomeres J. Cell Biol. 167 269 279 (Pubitemid 39435070)
181. S.C. Teng V.A. Zakian 1999 Telomere-Telomere Recombination Is an Efficient Bypass Pathway for Telomere Maintenance in Saccharomyces cerevisiae Mol. Cell Biol. 19 8083 8093 (Pubitemid 30414003)
182. A.J. Therkelsen A. Nielsen J. Koch 1995 Staining of Human Telomeres with Primed in Situ Labeling (PRINS) Cytogenet. Cell Genet. 68 115 118 (Pubitemid 24336734)
183. R. Tupler D. Gabellini 2004 Molecular Basis of Facioscapulohumeral Muscular Dystrophy Cell Mol. Life Sci. 61 557 566 (Pubitemid 38372910)
184. L.H. Van der Ploeg A.W. Cornelissen 1984 The Contribution of Chromosomal Translocations to Antigenic Variation in Trypanosoma brucei Philos. Trans. R. Soc. Lond. B Biol. Sci. 307 13 26
185. J.A. Veltman E.F. Schoenmakers B.H. Eussen 2002 High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization Am. J. Hum. Genet. 70 1269 1276 (Pubitemid 34450576)
186. L. Vespa R.T. Warrington P. Mokros 2007 Atm Regulates the Length of
187. P.M.B. Walker 1968 How Different Are the DNAs from Related Animals? Nature 219 228 232
188. Y. Wang D.J. Patel 1993 Solution Structure of the Human Telomeric Repeat D[AG3(T2AG3)3] G-Tetraplex Structure 1 263 282 (Pubitemid 2031126)
189. J.D. Watson F.H. Crick 1953 Genetical Implications of the Structure of Deoxyribonucleic Acid Nature 171 964 967
190. K. Weipoltshammer C. Schofer M. Almeder 1999 Intranuclear Anchoring of Repetitive DNA Sequences: Centromeres, Telomeres, and Ribosomal DNA J. Cell Biol. 147 1409 1418 (Pubitemid 30027397)
191. M.N. Weitzmann K.J. Woodford K. Usdin 1996 The Development and Use of a DNA Polymerase Arrest Assay for the Evaluation of Parameters Affecting Intrastrand Tetraplex Formation J. Biol. Chem. 271 20958 20964 (Pubitemid 26281887)
192. R.J. Wellinger K. Ethier P. Labrecque 1996 Evidence for a New Step in Telomere Maintenance Cell 85 423 433 (Pubitemid 26160713)
193. R.J. Wellinger A.J. Wolf V.A. Zakian 1992 Use of Non-Denaturing Southern Hybridization and Two Dimensional Agarose Gels to Detect Putative Intermediates in Telomere Replication in Saccharomyces cerevisiae Chromosoma 102 S150 156
194. R.J. Wellinger A.J. Wolf V.A. Zakian 1993 Origin Activation and Formation of Single-Strand TG1-3 Tails Occur Sequentially in Late S Phase on a Yeast Linear Plasmid Mol. Cell Biol. 13 4057 4065
195. R.J. Wellinger A.J. Wolf V.A. Zakian 1993 Saccharomyces Telomeres Acquire Single-Strand TG1-3 Tails Late in S Phase Cell 72 51 60
196. C. Wijmenga J.E. Hewitt L.A. Sandkuijl 1992 Chromosome 4q DNA Rearrangements Associated with Facioscapulohumeral Muscular Dystrophy Nat. Genet. 2 26 30
197. J.R. Williamson M.K. Raghuraman T.R. Cech 1989 Monovalent Cation-Induced Structure of Telomeric DNA: The G-Quartet Model Cell 59 871 880 (Pubitemid 20022377)
198. J.M. Wong K. Collins 2003 Telomere Maintenance and Disease Lancet 362 983 988 (Pubitemid 37159296)
199. W.E. Wright V.M. Tesmer K.E. Huffman 1997 Normal Human Chromosomes Have Long G-Rich Telomeric Overhangs at One End Genes Dev. 11 2801 2809 (Pubitemid 27481681)
200. L. Xu E.H. Blackburn 2007 Human Cancer Cells Harbor T-Stumps, a Distinct Class of Extremely Short Telomeres Mol. Cell 28 315 327 (Pubitemid 47600004)
201. J. Yan E.F. Bouchard O. Samassekou 2007 Identification of a Human Chromosome-Specific Interstitial Telomere-Like Sequence (ITS) at 22q11.2 Using Double-Strand PRINS Cytogenet. Genome Res. 116 29 37 (Pubitemid 46197127)
202. J. Yan B.Z. Chen E.F. Bouchard 2004 The Labeling Efficiency of Human Telomeres Is Increased by Double-Strand PRINS Chromosoma 113 204 209 (Pubitemid 39409790)
203. Y.E. Yegorov S.S. Akimov A.K. Akhmalisheva 1999 Blockade of Telomerase Function in Various Cells Anticancer Drug Des. 14 305 316
204. A.M. Zahler J.R. Williamson T.R. Cech 1991 Inhibition of Telomerase by G-Quartet DNA Structures Nature 350 718 720 (Pubitemid 21912306)
205. A.J. Zaug E.R. Podell T.R. Cech 2005 Human POT1 Disrupts Telomeric G-Quadruplexes Allowing Telomerase Extension in Vitro Proc. Natl. Acad. Sci. USA 102 10864 10869 (Pubitemid 41105958)
206. Y. Zhao H. Hoshiyama J.W. Shay 2008 Quantitative Telomeric Overhang Determination Using a Double-Strand Specific Nuclease Nucleic Acids Res. 36 e14
207. N.S. Zhdanova N.B. Rubtsov Yu.M. Minina 2007 Terminal Regions of Mammal Chromosomes: Plasticity and Role in Evolution Genetika 43 873 886
208. J.M. Zijlmans U.M. Martens S.S. Poon 1997 Telomeres in the Mouse Have Large Inter-Chromosomal Variations in the Number of T2ag3 Repeats Proc. Natl. Acad. Sci. USA 94 7423 7428 (Pubitemid 27345331)
209. Y. Zou S.M. Gryaznov J.W. Shay 2004 Asynchronous Replication Timing of Telomeres at Opposite Arms of Mammalian Chromosomes Proc. Natl. Acad. Sci. USA 101 12928 12933 (Pubitemid 39167560)